Focus on the treatment of inherited retinal diseases / 中华实验眼科杂志

ABSTRACT

Inherited retinal diseases ( IRDs) are rare and incurable eye diseases. Gene therapy has become a new method for the treatment of IRDs. At present, at least 26 clinical trials of gene therapy involving at least 16 different IRDs genes are in progress or imminent. Such as autosomal recessive retinitis pigmentosa ( RP, MERTK mutation),choroideremia (CHM mutation),Stargardt' s disease (ABCA4 mutation),Usher syndrome 1B subtype (Myo7a mutation),X-linked retinoschisis (RS1 mutation),mitochondrial-related Leber hereditary optic neuropathy ( ND4 mutation ) , panchromatic blindness ( CNGA3 mutation and CNNGB3 mutation ) , sex-linked RP ( RPGR mutation) . Adeno-associated viral ( AAV ) vector-mediated gene expression is a conventional method for gene transduction,which has showed efficacies in autosomal recessive IRDs caused by small gene mutations,especially for those IRDs,which have the original lesions in retinal pigment epithelial ( RPE) cells and photoreceptor cells. Novel progress has been made in animal experiments by gene editing technologies for autosomal dominant IRDs or autosomal recessive IRDs with large gene mutations,which is going to clinical trial. Oligonucleotide therapy based on RNA has also shown good efficacy for the IRDs caused by large genes, which beyond the AAV capacity. These research achievements are attacking more and more attentions in these fields. Although there are still some efficacy and safety issues on the way to treat IRDs,it is reasonable to expect that more and more patients with IRDs will be treated in the near future.